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Right-sided aortic arch in the age of microarray
Edward F O'Mahony1,2, Darren P Hutchinson1,3, George McGillivray1,4
1Royal Women's Hospital, Parkville, Victoria, Australia.
Prenatal Diagnosis
|February 17, 2017
Summary
Single nucleotide polymorphism microarray analysis detected significant chromosomal anomalies in fetuses with right aortic arch, including microdeletions and microduplications, that conventional methods missed. This highlights the importance of advanced genetic testing for accurate prenatal diagnosis and counseling.
Area of Science:
- Prenatal genetics
- Fetal medicine
- Medical diagnostics
Background:
- Right aortic arch is a rare congenital anomaly.
- Conventional genetic testing may miss certain chromosomal abnormalities.
- Accurate diagnosis is crucial for prenatal counseling and management.
Purpose of the Study:
- To determine the frequency of chromosomal anomalies in fetuses with right aortic arch using SNP microarray.
- To identify microduplications or microdeletions missed by karyotyping and FISH.
- To assess the clinical significance of microarray findings in this population.
Main Methods:
- Retrospective review of fetal ultrasounds (2011-2016).
- Analysis of chromosomal anomalies using single nucleotide polymorphism (SNP) microarray.
- Evaluation of outcomes including survival and postnatal surgery for vascular ring.
Main Results:
- Chromosomal anomalies were found in 32% of fetuses tested.
- Microarray identified clinically significant copy number variants in 16% of cases.
- The 22q11.2 deletion was detected in 12% of fetuses.
Conclusions:
- SNP microarray is superior to conventional methods for detecting chromosomal anomalies in fetuses with right aortic arch.
- Prenatal counseling should address the possibility of postnatal surgery and the need for long-term follow-up.
- Advanced genetic testing improves diagnostic yield and informs management strategies.
